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Nbn nibrin [ Mus musculus (house mouse) ]

Gene ID: 27354, updated on 8-Feb-2024

Summary

Official Symbol
Nbnprovided by MGI
Official Full Name
nibrinprovided by MGI
Primary source
MGI:MGI:1351625
See related
Ensembl:ENSMUSG00000028224 AllianceGenome:MGI:1351625
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Nbs1
Summary
Enables damaged DNA binding activity. Involved in blastocyst growth and isotype switching. Acts upstream of or within cell population proliferation; intracellular signal transduction; and neuromuscular process controlling balance. Located in PML body and replication fork. Colocalizes with chromosome, telomeric region. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart; and respiratory system. Used to study Nijmegen breakage syndrome and T-cell acute lymphoblastic leukemia. Human ortholog(s) of this gene implicated in several diseases, including Nijmegen breakage syndrome; acute lymphoblastic leukemia; aplastic anemia; breast cancer; and reproductive organ cancer (multiple). Orthologous to human NBN (nibrin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 7.5), CNS E11.5 (RPKM 7.0) and 27 other tissues See more
Orthologs
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Genomic context

See Nbn in Genome Data Viewer
Location:
4 A2; 4 6.66 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (15955388..15992589)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (15957587..15992589)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 26148 Neighboring gene 2,4-dienoyl CoA reductase 1, mitochondrial Neighboring gene microRNA 6400 Neighboring gene STARR-positive B cell enhancer ABC_E6155 Neighboring gene oxidative stress induced growth inhibitor family member 2 Neighboring gene receptor (TNFRSF)-interacting serine-threonine kinase 2 Neighboring gene STARR-positive B cell enhancer ABC_E1638

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA-binding transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
enables damaged DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables damaged DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage checkpoint signaling ISO
Inferred from Sequence Orthology
more info
PubMed 
acts_upstream_of_or_within DNA damage response IEA
Inferred from Electronic Annotation
more info
 
involved_in DNA damage response IEA
Inferred from Electronic Annotation
more info
 
involved_in DNA double-strand break processing NAS
Non-traceable Author Statement
more info
PubMed 
involved_in DNA duplex unwinding IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in DNA duplex unwinding ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within DNA repair IEA
Inferred from Electronic Annotation
more info
 
involved_in DNA repair IEA
Inferred from Electronic Annotation
more info
 
involved_in DNA strand resection involved in replication fork processing NAS
Non-traceable Author Statement
more info
PubMed 
involved_in blastocyst growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in double-strand break repair ISO
Inferred from Sequence Orthology
more info
 
involved_in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in homologous recombination NAS
Non-traceable Author Statement
more info
PubMed 
involved_in in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in isotype switching IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in mitotic G2 DNA damage checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within mitotic G2 DNA damage checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitotic G2 DNA damage checkpoint signaling ISO
Inferred from Sequence Orthology
more info
 
involved_in mitotic G2/M transition checkpoint NAS
Non-traceable Author Statement
more info
PubMed 
involved_in mitotic cell cycle checkpoint signaling IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of neuron differentiation ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of telomere capping ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of viral entry into host cell ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within neuroblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuromuscular process controlling balance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of kinase activity ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of protein autophosphorylation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of telomere maintenance ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of fibroblast proliferation ISO
Inferred from Sequence Orthology
more info
 
involved_in t-circle formation ISO
Inferred from Sequence Orthology
more info
 
involved_in telomere maintenance ISO
Inferred from Sequence Orthology
more info
 
involved_in telomere maintenance via telomere trimming ISO
Inferred from Sequence Orthology
more info
 
involved_in telomeric 3' overhang formation ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of BRCA1-C complex ISO
Inferred from Sequence Orthology
more info
 
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
part_of Mre11 complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of Mre11 complex ISO
Inferred from Sequence Orthology
more info
 
located_in PML body IDA
Inferred from Direct Assay
more info
PubMed 
located_in PML body ISO
Inferred from Sequence Orthology
more info
 
located_in chromosomal region NAS
Non-traceable Author Statement
more info
PubMed 
located_in chromosome IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromosome, telomeric region ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear inclusion body ISO
Inferred from Sequence Orthology
more info
 
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 
located_in replication fork IDA
Inferred from Direct Assay
more info
PubMed 
located_in site of double-strand break ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
nibrin
Names
cell cycle regulatory protein p95
nijmegen breakage syndrome protein 1 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_013752.3NP_038780.3  nibrin

    See identical proteins and their annotated locations for NP_038780.3

    Status: VALIDATED

    Source sequence(s)
    BC013190, BC055061
    Consensus CDS
    CCDS17986.1
    UniProtKB/Swiss-Prot
    O88981, Q3UY57, Q811I6, Q8CCY0, Q9R1X1, Q9R207
    Related
    ENSMUSP00000029879.9, ENSMUST00000029879.15
    Conserved Domains (4) summary
    cd00027
    Location:114182
    BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
    cd00060
    Location:1109
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    pfam08599
    Location:681743
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:217325
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    15955388..15992589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006537970.4XP_006538033.1  nibrin isoform X4

    See identical proteins and their annotated locations for XP_006538033.1

    Conserved Domains (3) summary
    pfam08599
    Location:530591
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:66174
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
    cl00038
    Location:133
    BRCT; C-terminal domain of the breast cancer suppressor protein (BRCA1) and related domains
  2. XM_006537971.3XP_006538034.1  nibrin isoform X4

    See identical proteins and their annotated locations for XP_006538034.1

    Conserved Domains (3) summary
    pfam08599
    Location:530591
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:66174
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
    cl00038
    Location:133
    BRCT; C-terminal domain of the breast cancer suppressor protein (BRCA1) and related domains
  3. XM_030253593.2XP_030109453.1  nibrin isoform X3

    Conserved Domains (3) summary
    pfam08599
    Location:530590
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:66174
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
    cl00038
    Location:133
    BRCT; C-terminal domain of the breast cancer suppressor protein (BRCA1) and related domains
  4. XM_030253594.2XP_030109454.1  nibrin isoform X3

    Conserved Domains (3) summary
    pfam08599
    Location:530590
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:66174
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
    cl00038
    Location:133
    BRCT; C-terminal domain of the breast cancer suppressor protein (BRCA1) and related domains
  5. XM_030253592.2XP_030109452.1  nibrin isoform X1

    Conserved Domains (4) summary
    cd00060
    Location:1109
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    cd17741
    Location:111184
    BRCT_nibrin; BRCT domain of nibrin and similar proteins
    pfam08599
    Location:681741
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:217325
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
  6. XM_036164174.1XP_036020067.1  nibrin isoform X2

    Conserved Domains (3) summary
    cd17741
    Location:1071
    BRCT_nibrin; BRCT domain of nibrin and similar proteins
    pfam08599
    Location:568628
    Nbs1_C; DNA damage repair protein Nbs1
    pfam16508
    Location:104212
    NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein